Variant report

Variant	rs2513847
Chromosome Location	chr8:98957651-98957652
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:98949816..98952906-chr8:98954866..98958097,3	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10091886	0.81[JPT][hapmap]
rs1020654	0.81[JPT][hapmap]
rs1020655	0.81[JPT][hapmap]
rs1378123	0.81[JPT][hapmap]
rs1378124	0.88[JPT][hapmap]
rs1378125	0.88[JPT][hapmap]
rs1378126	0.81[JPT][hapmap]
rs1454714	0.88[JPT][hapmap]
rs2444879	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2444902	0.81[JPT][hapmap]
rs2512026	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2512034	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2512035	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2513845	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2513846	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2513851	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs4469426	0.81[JPT][hapmap]
rs4512352	0.81[JPT][hapmap]
rs5012370	0.81[JPT][hapmap]
rs897190	0.88[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv1028055	chr8:98780445-98977746	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv891214	chr8:98849303-98990399	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv891215	chr8:98910287-98980663	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:98938200-98969200	Weak transcription	Colonic Mucosa	Colon
2	chr8:98941000-98968000	Weak transcription	Esophagus	oesophagus
3	chr8:98944600-98957800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:98945600-98970200	Weak transcription	Spleen	Spleen
5	chr8:98950400-98964600	Weak transcription	Pancreas	Pancrea
6	chr8:98952200-98962200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr8:98954200-98957800	Genic enhancers	Fetal Stomach	stomach
8	chr8:98954200-98957800	Enhancers	NHDF-Ad	bronchial
9	chr8:98954200-98958000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:98955400-98957800	Enhancers	Left Ventricle	heart
11	chr8:98955600-98959000	Enhancers	Ovary	ovary
12	chr8:98955600-98962200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:98955600-98962400	Weak transcription	Fetal Kidney	kidney
14	chr8:98956400-98957800	Enhancers	Right Ventricle	heart
15	chr8:98956600-98962400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr8:98956600-98968800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr8:98956600-98973600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr8:98956800-98957800	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr8:98957000-98961800	Weak transcription	Brain Angular Gyrus	brain
20	chr8:98957000-98962000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr8:98957000-98962000	Weak transcription	Brain Substantia Nigra	brain
22	chr8:98957000-98962400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:98957000-98962600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr8:98957000-98962800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:98957000-98963200	Weak transcription	NH-A	brain
26	chr8:98957200-98958000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr8:98957200-98958200	Enhancers	Fetal Muscle Leg	muscle
28	chr8:98957200-98962400	Weak transcription	NHLF	lung
29	chr8:98957200-98962400	Weak transcription	Osteobl	bone
30	chr8:98957200-98962600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:98957200-98962600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:98957200-98963000	Weak transcription	Fetal Muscle Trunk	muscle
33	chr8:98957200-98963200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:98957200-98970800	Weak transcription	Colon Smooth Muscle	Colon
35	chr8:98957200-98973600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr8:98957400-98957800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:98957400-98958000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr8:98957400-98958400	Weak transcription	Fetal Lung	lung
39	chr8:98957400-98963000	Weak transcription	Fetal Heart	heart
40	chr8:98957600-98957800	Enhancers	Right Atrium	heart
41	chr8:98957600-98960400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:98957600-98961800	Weak transcription	Brain Hippocampus Middle	brain
43	chr8:98957600-98962000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr8:98957600-98962600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr8:98957600-98962800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr8:98957600-98963000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:98957600-98963000	Weak transcription	Adipose Nuclei	Adipose
48	chr8:98957600-98963000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr8:98957600-98963200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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